Variant report

Variant	rs372096952
Chromosome Location	chr16:47006429-47006430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:47006189-47006777	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr16:47006279-47008925	GM12878	blood:	n/a	n/a
3	MAX	chr16:47006177-47008159	K562	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
4	POLR2A	chr16:47006360-47008038	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr16:47006408-47006774	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:47006406-47008908	Raji	blood:	n/a	n/a
7	STAT3	chr16:47006329-47006660	MCF10A-Er-Src	breast:	n/a	chr16:47006511-47006531 chr16:47006511-47006531 chr16:47006532-47006539
8	POLR2A	chr16:47006263-47008909	GM18505	blood:	n/a	n/a
9	POLR2A	chr16:47006349-47008106	H1-neurons	neurons:	n/a	n/a
10	MAX	chr16:47006133-47008675	HepG2	liver:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
11	MAX	chr16:47006402-47006545	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:47006400-47007144	GM12892	blood:	n/a	n/a
13	MAZ	chr16:47006359-47006509	HepG2	liver:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
14	PML	chr16:47006247-47008765	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:47006105-47008953	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:47006129-47008902	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:47006029-47008800	GM12892	blood:	n/a	n/a
18	SIN3A	chr16:47006356-47007952	H1-hESC	embryonic stem cell:	n/a	chr16:47007739-47007752
19	POLR2A	chr16:47006207-47007201	GM12891	blood:	n/a	n/a
20	POLR2A	chr16:47006034-47007207	GM12878	blood:	n/a	n/a
21	MAX	chr16:47006290-47008595	K562	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
22	ELF1	chr16:47006303-47006980	HepG2	liver:	n/a	chr16:47006872-47006884 chr16:47006527-47006538
23	MBD4	chr16:47006143-47006717	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:47006352-47007223	GM12891	blood:	n/a	n/a
25	POLR2A	chr16:47006399-47007224	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr16:47006428-47006751	ProgFib	skin:	n/a	n/a
27	ZNF263	chr16:47006255-47008040	HEK293-T-REx	kidney:	n/a	chr16:47007130-47007139 chr16:47006854-47006863
28	POLR2A	chr16:47006167-47008946	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr16:47006158-47007195	HepG2	liver:	n/a	n/a
30	GABPA	chr16:47006167-47007094	SK-N-SH	brain:	n/a	n/a
31	SPI1	chr16:47006234-47006817	HL-60	blood:	n/a	chr16:47006529-47006538
32	TAF1	chr16:47006416-47006714	SK-N-SH	brain:	n/a	n/a
33	GABPA	chr16:47006427-47006654	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:47006232-47007279	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr16:47005992-47008167	GM12878	blood:	n/a	n/a
36	MYC	chr16:47006414-47008609	K562	blood:	n/a	chr16:47008457-47008468 chr16:47008377-47008387
37	MYBL2	chr16:47006288-47007077	HepG2	liver:	n/a	n/a
38	MYC	chr16:47006293-47006702	MCF10A-Er-Src	breast:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
39	TBL1XR1	chr16:47006265-47007024	K562	blood:	n/a	n/a
40	MTA3	chr16:47006420-47007190	GM12878	blood:	n/a	n/a
41	MAX	chr16:47006298-47006751	H1-hESC	embryonic stem cell:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
42	ELF1	chr16:47006275-47007238	K562	blood:	n/a	chr16:47007222-47007234 chr16:47006872-47006884 chr16:47006527-47006538
43	JUND	chr16:47006302-47006492	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr16:47006415-47008593	Hela-S3	cervix:	n/a	n/a
45	MYC	chr16:47006233-47008777	NB4	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
46	GABPA	chr16:47006318-47007202	MCF-7	breast:	n/a	n/a
47	POLR2A	chr16:47006426-47007192	GM12891	blood:	n/a	n/a
48	MAX	chr16:47006207-47008742	A549	lung:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
49	WRNIP1	chr16:47006203-47007192	GM12878	blood:	n/a	n/a
50	POLR2A	chr16:47006362-47006836	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:46864940..46866562-chr16:47005297..47007739,2	K562	blood:
2	chr16:47005880..47007672-chr16:48188502..48190685,2	K562	blood:
3	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
4	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:

Variant related genes	Relation type
ENSG00000261173	TF binding region
ENSG00000260281	Chromatin interaction
ENSG00000140798	Chromatin interaction
ENSG00000155330	Chromatin interaction
ENSG00000171208	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	esv3439120	chr16:47006276-47008824	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47004400-47008600	Active TSS	GM12878-XiMat	blood
2	chr16:47005400-47006600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
3	chr16:47005600-47006600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr16:47005600-47007600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr16:47005600-47008000	Active TSS	A549	lung
6	chr16:47005600-47008200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr16:47005800-47006600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr16:47005800-47006800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:47005800-47006800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:47005800-47006800	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr16:47005800-47006800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr16:47005800-47006800	Flanking Active TSS	Fetal Brain Female	brain
13	chr16:47005800-47006800	Flanking Active TSS	HUVEC	blood vessel
14	chr16:47005800-47007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:47005800-47007000	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr16:47005800-47007000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr16:47005800-47008200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr16:47005800-47008400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:47006000-47006600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:47006000-47006600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr16:47006000-47006600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr16:47006000-47006600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr16:47006000-47006600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:47006000-47006600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr16:47006000-47006600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr16:47006000-47006600	Flanking Active TSS	Brain Angular Gyrus	brain
27	chr16:47006000-47006600	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr16:47006000-47006600	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr16:47006000-47006600	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr16:47006000-47006600	Flanking Active TSS	Fetal Brain Male	brain
31	chr16:47006000-47006600	Flanking Active TSS	Rectal Smooth Muscle	rectum
32	chr16:47006000-47006600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr16:47006000-47006600	Flanking Active TSS	Thymus	Thymus
34	chr16:47006000-47006600	Flanking Active TSS	NHEK	skin
35	chr16:47006000-47006800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:47006000-47006800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr16:47006000-47006800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr16:47006000-47006800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:47006000-47006800	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr16:47006000-47006800	Flanking Active TSS	Brain Germinal Matrix	brain
41	chr16:47006000-47006800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr16:47006000-47006800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr16:47006000-47006800	Flanking Active TSS	Hela-S3	cervix
44	chr16:47006000-47006800	Flanking Active TSS	NH-A	brain
45	chr16:47006000-47006800	Flanking Active TSS	Osteobl	bone
46	chr16:47006000-47007000	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr16:47006000-47007000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr16:47006000-47007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:47006000-47007000	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr16:47006000-47007400	Active TSS	Right Atrium	heart

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